Red forehead plaque and facial angiofibromas of tuberous sclerosis.
Flesh-colored forehead plaque of tuberous sclerosis.
Periungual fibrous nodules (Koenen’s tumors) on the toes of an adolescent with tuberous sclerosis.
Gingival fibromas in tuberous sclerosis.
CLINICAL FEATURES
Angiofibromas are flesh to red-colored papules or plaques. They are most commonly seen in the tuberous sclerosis complex.
Periungual and gingival fibromas begin developing with adolescence. Periungual fibromas may be painful, destroy the nail and bleed with trauma.
TREATMENT
If treatment is begun early in life facial angiofibromas respond well to vascular pulsed dye laser treatment. More established lesions may be treated with the carbon dioxide laser. Treatment of facial angiofibromas with rapamycin is in the experimental stages.
Hamartin and tuberin suppress mTOR activation. In TSC, mutation of hamartin or tuberin allows for unsuppressed activity of mTOR, leading to the unregulated growth of the facial angiofibromas.
Periungual fibromas may be treated with curettage and electrocautery of the base.
